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FARIMPD

Chr 1AR

ATPase Na+/K+ transporting subunit alpha 2

Also known as: DEE98, FARIMPD, FHM2, MHP2

NCBI Gene: 477 OMIM: 619602

The protein is the alpha-2 subunit of Na+/K+-ATPase, an integral membrane protein that establishes and maintains sodium and potassium ion gradients across cell membranes, which are essential for nerve and muscle electrical excitability, osmoregulation, and transport of various molecules. Mutations cause a severe autosomal recessive disorder characterized by fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies. This represents a distinct and more severe phenotype than the familial hemiplegic migraine and alternating hemiplegia of childhood typically associated with other ATP1A2 mutations.

OMIM ResearchSummary from RefSeq, OMIM

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008]

OMIM ResearchGenerating clinical summary…

AR1 OMIM phenotype

Clinical Summary— FARIMPD

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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/FARIMPD?content-type=application/json&expand=1

gnomad: Error: Gene not found